17q 21.31 microdeletion syndrome

17q21.31 Microdeletion Syndrome

1p36 Chromosome Deletion Syndrome

4 Limb Arthrogriposis

4 Limb Dystonia

49, XXXXY Syndrome

9q34.3 Subtelomeric Deletion Syndrome

Absence of Corpus Callusum

Absence Seizures

Achondroplasia

Achondroplasia Paraplegia

Acquired Brain Injury

Acute Lymphoblastic Leukaemia

Adrenal Hypoplasia

Agenesis of the Corpus Callosum

Aicardi Goutieres Syndrome

Aicardi Syndrome

Airway Obstruction

Alagille Syndrome

Alcohol Related Neurodevelopmental Delay

Alopecia

Alpers' Disease

Amputation

Anaplastic Oligodendroglioma

Angelman Syndrome

Anxiety

Aortic Root Dilation

Apraxia

Aqueduct Stenosis

Arnold Chiari 1 Malformation

Arteriovenous Malformation of the Brain

Arthritis

Arthrogryposis Multiplex Congenita

Asperger Syndrome

Asthma

Astrocytoma

Ataxia

Ataxia Telangiectasia

Ataxic Cerebral Palsy

Athetoid Cerebral Palsy

Athetoid Dystonia

ATRX Syndrome

Attachment Disorder

Attention Defecit Hyperactivity Disorder (ADHD)

Atypical Haemolytic Uraemic Syndrome

Atypical Teratoid Rhabdoid Tumour

Autistic Spectrum Disorder (ASD)

Batten Disease

Becker's Muscular Dystrophy

Beckwith Wiedemann Syndrome

Behavioural Problems

Bilateral Anophthalmia

Bilateral Developmental Dysplasia of the Hips (DDH)

Bilateral Dislocated Hips

Bilateral Lower Limb Deficiency

Bilateral Periventricular Leukomalacia

Biliary Atresia

Bingham Syndrome

Bladder Extrophy

Bladder Inontinence

Blindness

Brachycephaly

Brain Malformation

Bulbar Palsy

C2-3 Spinal Cord Injury

Canavan Disease

Cancer

Cardio Facio Cutaneous Syndrome (CFC)

Cavernous Angioma

Central Core Myopathy

Central Hyperventilation Syndrome

Cerebella Ataxia

Cerebella Atrophy

Cerebella Hypoplasia

Cerebellopontine Angle Syndrome

Cerebral Atrophy

Cerebral Haemorrhage

Charcot Arthropathy

Charcot-Marie-Tooth Disease

Charge Syndrome

Chiari Malformation

Cholestatic Liver Disease

Chromosome 11q Duplication Syndrome

Chromosome 14q Deletion

Chromosome 14q Duplication

Chromosome 1p Deletion Syndrome

Chromosome 2 Long Arm Deletion

Chromosome 22q11 Deletion

Chromosome 22q11.2 Duplication Syndrome

Chromosome 2q37 Deletion Syndrome

Chromosome 4, Trisomy 4p

Chromosome 9p Deletion

Chromosome Translocation

Chromosome Xp22.31 Duplication

Chronic Ear Infection

Chronic Leukopenia Neuroimmune Disorder

Chronic Lung Disease

Chronic Neonatal Lung Disease

Chronic Obliterative Bronchiolitis

Chronic Osteomyelitis

Chronic Pain

Chronic Post Viral Fatigue

Chronic Veno Occlusive Disease

Cleft Lip

Cleft Palate

Cockayne Syndrome

Coeliac Disease

Colitis

Colonic Atresia

Communication Problems

Complex Congenital Heart Defects

Complex Neurological Disorder

Compression of the Lung

Congenital Adrenal Hyperplasia

Congenital Axonal Neuropathy

Congenital Benign Hypotonia

Congenital Bilateral Perisylvian Polymicrogyria

Congenital Cataracts

Congenital Core Myopathy

Congenital Cortical Dysplasia

Congenital Cytomegalovirus

Congenital Dislocation of Patella

Congenital Fibular Hemimelia

Congenital Heart Disease

Congenital Myasthenia

Congenital Myasthenic Syndrome

Congenital Myopathy

Congenital Myotonic Dystrophy

Congenital Pulmonary Lymphangiectasia

Congenital Rubella Syndrome

Congenital Talipes Equinovarus (Club Foot)

Congenital Toxoplasmosis

Congenital Tracheoesophageal Fistula

Congenital Truncus Arteriosus

Congential Absence of Right Hand & Forearm

Congential Heart Disease

Convergent Squint

Cornelia de Lange Syndrome

Coronary Heart Disease

Cortical Vision Impairment

Costello Syndrome

Craniopharyngioma

Craniosynostosis

Cri Du Chat Syndrome

Crohn's Disease

Cryptogenic Infantile Spasms

Cutis Marmorata Telangiectatica Congenita Syndrome

Cyclical Vomiting Syndrome

Cystic Fibrosis

Cystic Periventricular Leukomalacia

Cystinuria

Cysts on the Brain

Cytomegalovirus

Dandy-Walker Syndrome

Dandy-Walker Variant

Danlos Ehlers Syndrome

Deafness

Degenerative Undiagnosed Condition

Delayed Sleep Phase Disorder

Delayed Speech

Developmental Delay

Developmental Dyspraxia

Developmental Regression

Diabetes Type I

Diabetes Type II

Diabetic Retinopathy

Diffuse Pontine Glioma

DiGeorge Syndrome

Dilated Cardiomyopathy

Donohue Syndrome

Down's Syndrome

Dravet Syndrome

Dubowitz Syndrome

Duchenne Muscular Dystrophy (DMD)

Dysarthria

Dyslexia

Dysmorphism

Dysphagia

Dyspraxia

Dystonia

Dystonic/Tremor Disorder

Early Onset Obesity (MC4R)

Eczema

Edward's Syndrome

Ehlers-Danlos Syndrome

Encephalic Cyst

Encephalitis

Encephalopathy

Encysted Fourth Ventricle

Endocarditis

Eosinophilic Enteropathy (EE)

Ependymoma

Epidermolysis Bullosa Simplex

Epilepsy

Epileptic Encephalopathy

Equinovarus Deformity

Erb's Palsy

Escabar Syndrome

Evans Syndrome

Ewings Sarcoma

Facioscapulohumeral Dystrophy

Facioscapulohumeral Muscular Dystrophy (FSHD)

Fanconi's Anaemia

Feeding Problems

Fibrodysplasia Ossificans Progressiva

Foetal Alcohol Syndrome

Foetal Valproate Syndrome

Fowler's Syndrome

Fragile X Syndrome

Friedreich's Ataxia

Fructose Bisphosphatase Deficiency

Fumarate Hydratase Deficiency

Functional Neurological Disorder

Gait Disorder

Ganglioneuroma Tumour

Gastroesophageal Reflux Disease (GERD)

Glaucoma

Global Developmental Delay

Glutaric Aciduria Type 1

Glycogen Storage Disease Type O

Goldenhar Syndrome

Gorham's Disease

Growth Delay

Haas-Robinson Syndrome

Haemophilus

Hearing Impairement

Heart Failure

Heart Murmur

Heart Transplant

Hemiparesis

Hemiplegia of Childhood

Hemiplegic Cerebral Palsy

Hereditary Motor and Sensory Neuropathy (HMSM)

Hereditary Spastic Paralegia

Herpes Simplex Encephalitis

Hirschsprung's Disease

Histiocytosis

HIV Infection

Hodgkin's Lymphoblastic Lymphoma

Hodgkin's Lymphoma

Hole in the Heart

Holoprosencephaly

Homocystinuria

Homozygous Acute Intermittent Porphyria

Hunter Syndrome

Hydrocephalus

Hyperactivity

Hyperacusis

Hyperkinetic Syndrome

Hypermobility of Joints

Hypermobility Syndrome

Hypertension

Hypertonia

Hypolasia

Hypopituitarism

Hypoplasia of Corpus Callosum

Hypoplastic Left Heart Syndrome

Hypoplastic Right Heart Syndrome

Hyposensitivity

Hypothyroidism

Hypotonia

Hypoventilation Syndrome

Hypoxic Brain Injury

Hypoxic Ischemic Encephalopathy

Hypoxic-Ischemic Brain Injury

Infantile Scoliosis

Infantile Spasms

Inflammatory Bowel Disease

Intestinal Failure

Intracerebral Haemorrhage

Intractable Epilepsy

Intraventricular Bilateral Hemorrhage

Irritable Bowel Syndrome

Joubert Syndrome

Juvenile Dermatomyositis

Juvenile Enthesitis Related Arthritis

Juvenile Huntington's Disease

Juvenile Idiopathic Arthritis

Juvenile Parkinson's Disease

Kabuki Syndrome

Kasabach Merritt Syndrome

Kidney Disease

Kidney Transplant

Klanner's Autism

Kleefstra Syndrome

Kniest Syndrome

Kyphoscoliosis

Kyphosis

Landau-Kleffner Syndrome

Langer-Giedion Syndrome Type 2

Laryngomalacia

Laryngotracheomalacia

Late Infantile Batten Disease

Laurin-Sandrow Syndrome

Lead Poisining

Leaky Gut Syndrome

Learning Disability

Leber's Congenital Amaurosis

Leigh's Disease

Lennox-Gastaut Syndrome

Leprechaunism

Leucodystrophy

Ligamentous Laxity

Limb-girdle Muscular Dystrophy

Lipomeningocele

Lissencephaly

Liver Failure

Liver Transplant

Long Gap Esophageal Atresia

Long QT Syndrome

Low Muscle Tone

Lowe Syndrome

Lymphoma

Macrocephaly

Malignant Glioma in Thalamus

Malnutrition

McCune-Albright Syndrome

Meares-Irlen Syndrome

Medium Chain Acyl Dehydrogenase Deficiency (MCADD)

MELAS Syndrome

Meningococcal Meningitis

Meningococcal Septicaemia

Metachromatic Leukodystrophy

Metastatic Medulloblastoma

Metatarsus Adductus Deformity

Microcephaly

Microphthalmia

Mild Cerebral Palsy

Miller-Dieker Syndrome

Minicore Myopathy

Mitochondrial Disorder

Mitochondrial Myopathy

Mitral Valve Stenosis

Mixed Cerebral Palsy

Mononucleosis

Monoplegia

Morquio Syndrome

Mowat-Wilson Syndrome

MTHFR Deficiency

Mucolipidosis Type 3

Mucopolysaccharide Disease

Mucopolysaccharide Storage Disease

Muscle Atrophy

Muscular Dystrophy

Myelodysplastic Syndrome

Myoclonic Epilepsy

Myofibrillar Myopathy

Myotonic Dystrophy

Myotubular Myopathy

Nemaline Rod Myopathy

Neonatal Encephalopathy

Neuroblastoma

Neurocutaneous Melanosis Sequence

Neurofibromatosis Type

Neuronal Migration Disorder

Neuropathic Bladder

Niemann-Pick Disease

Noonan Syndrome

Nuerofibromatosis

Nystagmus

Obsessive Compulsive Disorder (OCD)

Oesophagitis

Ohtahara Syndrome

Opitz Trigonocephaly Syndrome

Oppositional Defiant Disorder (ODD)

Opsoclonus Myoclonus Syndrome

Optic Nerve Atrophy

Osteogenesis Imperfecta

Osteoporosis

Pachygyria

Panhypopituitarism

Paraplegia

Paroxysmal Dystonic Choreoathetosis

Paroxysmal Non-Kinesogenic Choreothetosis

Partial Trisomy 13

Partial Trisomy 14

Partial Trisomy 14q

Partial Trisomy on Chromosome 3

Patau Syndrome

Pediatric Neurotransmitter Disease

PEHO Syndrome

Pelizaeus Merzbacher Disease

Perinatal Asphyxia

Perisylvian Syndrome

Periventricular Cysts

Periventricular Heterotopia

Periventricular Leukomalacia

Perthes' Disease

Pervasive Developmental Disorder (PDD)

Peter's Anomaly

Phenylketonuria

Physical Abuse

Pituitary Gland Tumour

Plagiocephaly

Poliomyelites

Polycystic Kidney Disease

Polymicrogyria

Polyostotic Fibrous Dysplasia

Pontocerebellar Hypoplasia

Post Traumatic Stress Disorder

Post Viral Encephalitis Syndrome

Prader-Willi Syndrome

Premature Adrenarche

Primary Hyperoxaluria

Primary Immunodeficiency Disease

Primary Lymphoedema

Progeria

Progressive Cardiomyopathy

Progressive Dysarthria

Ptosis

Pulmonary Aspiration Syndrome

Pulmonary Atresia

Pulmonary Hypertension

Pyloric Atresia

Pyruvate Dehydrogenase Complex Deficiency

Quadriplegic Cerebral Palsy

Rasmussen's Encephalitis

Reflux

Refractory Seizure Disorder

Retinopathy of Prematurity

Retinoschisis

Rett's Syndrome.

Rod-Cone Dystrophy

Rothmund-Thomson Syndrome

Rubinstein-Taybi Syndrome

Sacral Agenesis

Sanfilippo Syndrome

Sarcoidosis

Schizencephaly

Scoliosis

Secondary Immunodeficiency Disease

Seizures

Semilobar Holoprosencephaly

Sensory Integration Disorder

Sensory Processing Disorder

Septo-optic Dysplasia

Severe Athetoid Cerebral Palsy

Sexual Abuse

Shaken Baby Syndrome

Short Gut Syndrome

Short Stature

Sickle Cell Anemia

Sleep Apneoa

Sleep Apnoea

Small Bowel Transplant

Small Stature

Sodium Valproate Syndrome

Sotos Syndrome

Spastic Cerebral Palsy

Speech & Language Delay

Spina Bifida

Spinal Astrocytoma

Spinal Cord Injury

Spinal Cord Lesion

Spinal Fractures

Spinal Muscular Atrophy

Spondylometaphyseal Dysplasia

Spondylosis

Sscoliosis

Static Encephalopathy

Stickler Syndrome

Still's Disease

Stridor

Sturge Weber Syndrome

Subarachnoid Cyst

Subcortical Band Heterotopia

Subglottic Stenosis

Subvalvular Aortic Stenosis

Supraventricular Tachycardia

Syndromes without a name (SWAN)

Syringomyelia

T-Cell Acute Lymphoblastic Leukaemia

Terminal Posterior Fossa Ependymoma

Tethered Spinal Cord Syndrome

Tetralogy of Fallot

Tetraplegia

Tourette's Syndrome

Tracheostomy

Translocation Trisomy 11q - 22q

Transverse Myelitis

Tricuspid Atresia

Trisomy 14

Trisomy 21

Trisomy 22

Tuberous Sclerosis

Turner Syndrome

Ulcerative Colitis

Ulrich Congenital Muscular Dystrophy

Underdeveloped Cerebellum

Ventricular Septal Defect

Von Willebrand Disease

Vulvar Crohn's Disease

Walker-Warburg Syndrome

Warburg Micro Syndrome (WARBM)

West Syndrome

Williams Syndrome

Wolf-Hirschhorn Syndrome

XXXXY Syndrome (49 XXXXY)

Currently no conditions

Currently no conditions